regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CES1_chr16_55797851_55838096 | 55835038 | A | AACTCAG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0006t0002 | a0002c0002t0002g0064a0002c0002t0002g0065a0002c0002t0002g0066others(4): Show | 7 | 87 | 0.0805 | 6 | c.-19 others(17): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1943 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55835675 | G | GGAAGGA | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0013 | 2 | 87 | 0.0230 | 6 | c.-26 others(17): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2580 | chr16 | TogoVar | ||||||
CES2_chr16_66930516_66950096 | 66944323 | A | AAAAGAG | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006a0001c0001t0007g0009 | 6 | 374 | 0.0160 | 6 | c.*29 others(15): Show |
CES2 | ENSG00000172831.14 | transcript | ENST00000317091.10 | protein_coding | 12/12 | 300 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
CES4A_chr16_66983589_67015417 | 66997948 | A | AACACAC | intron_variant | MODIFIER | HG00438.hp2 HG02647.hp1 HG02965.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0066a0003c0003t0001g0144a0003c0003t0001g0145 | 3 | 306 | 0.0098 | 6 | c.260 others(23): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CETN1_chr18_575380_587114 | 576442 | G | GGAAGGA | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01099.hp2 NA20905.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0002g0000 | 3 | 422 | 0.0071 | 6 | c.-39 others(17): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3937 | chr18 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 576446 | G | GGAAGGA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(10): Show | 31 | 422 | 0.0735 | 6 | c.-39 others(17): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | ||||||
CETN2_chrX_152821994_152835757 | 152835059 | T | TTTCCCA | upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | 6 | c.-43 others(17): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 4303 | chrX | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTATATA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG02300.hp1 others(8): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0070a0001c0001t0001g0116others(7): Show | 11 | 422 | 0.0261 | 6 | c.49+ others(21): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTTTATA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01070.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0013a0001c0001t0001g0121a0001c0001t0001g0122others(22): Show | 26 | 422 | 0.0616 | 6 | c.49+ others(21): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP126_chr1_161359733_161372876 | 161371698 | G | GTTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00741.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0003g0011others(1): Show | 23 | 350 | 0.0657 | 6 | c.-38 others(17): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3823 | chr1 | TogoVar | ||||||
CFAP144_chr1_43142904_43161396 | 43154062 | G | GTATATA | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01952.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0056others(1): Show | 16 | 396 | 0.0404 | 6 | c.297 others(23): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP157_chr9_127701988_127721002 | 127720922 | T | TCCTCCC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001a0004a0006 | a0001c0007a0004c0005a0004c0014others(1): Show | a0001c0007t0006a0001c0007t0022a0004c0005t0001others(2): Show | a0001c0007t0006g0012a0001c0007t0022g0012a0004c0005t0001g0008others(4): Show | 15 | 354 | 0.0424 | 6 | c.*70 others(17): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4921 | chr9 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133176 | C | CATATAT | upstream_gene_variant | MODIFIER | HG04115.hp1 NA18947.hp1 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0173a0001c0001t0001g0188a0002c0002t0001g0025 | 3 | 448 | 0.0067 | 6 | c.-11 others(17): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1093 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | A | AATATAT | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00673.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0123others(15): Show | 25 | 448 | 0.0558 | 6 | c.637 others(21): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81152308 | A | ATCTCTC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(70): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(42): Show | 73 | 448 | 0.1630 | 6 | c.*37 others(17): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 3130 | chr15 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87450475 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01106.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0031a0001c0001t0002g0035others(11): Show | 15 | 376 | 0.0399 | 6 | c.149 others(27): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58856265 | G | GACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0052a0001c0001t0001g0062a0001c0001t0001g0072others(19): Show | 22 | 204 | 0.1078 | 6 | c.159 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58891422 | G | GGGGAGA | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0196a0001c0002t0001g0197a0001c0002t0001g0198others(2): Show | 5 | 204 | 0.0245 | 6 | c.551 others(23): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 6/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58907094 | C | CGTGTGT | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02717.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0006others(1): Show | a0001c0001t0001a0002c0003t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0178a0001c0001t0001g0179a0002c0003t0001g0177others(8): Show | 11 | 204 | 0.0539 | 6 | c.550 others(23): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 6/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | T | TTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01106.hp2 others(17): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0010 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0052a0001c0001t0001g0062others(17): Show | 20 | 204 | 0.0980 | 6 | c.279 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58966474 | G | GTATATA | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0159a0003c0004t0001g0160a0003c0004t0001g0161others(2): Show | 5 | 204 | 0.0245 | 6 | c.279 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58971864 | T | TACACAC | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp1 HG02486.hp1 others(14): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0002t0002g0005others(14): Show | 17 | 204 | 0.0833 | 6 | c.279 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58990754 | G | GGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG02615.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0083a0001c0001t0003g0202a0001c0001t0003g0203others(1): Show | 4 | 204 | 0.0196 | 6 | c.278 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58124846 | T | TGAGCCA | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01099.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0013a0001c0001t0002g0026a0001c0001t0002g0037others(13): Show | 30 | 400 | 0.0750 | 6 | c.84+ others(21): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169650734 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(51): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0128a0001c0001t0001g0129others(49): Show | 54 | 390 | 0.1385 | 6 | c.960 others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169692444 | G | GCACACA | intron_variant | MODIFIER | HG04184.hp2 NA18981.hp2 NA19066.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0276a0002c0002t0002g0087a0002c0002t0002g0088others(2): Show | 5 | 390 | 0.0128 | 6 | c.67+ others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169692444 | G | GCGCACA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00639.hp2 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0015others(44): Show | 52 | 390 | 0.1333 | 6 | c.67+ others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169692444 | G | GCGCGCA | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092a0001c0001t0003g0121a0001c0001t0003g0122others(4): Show | 7 | 390 | 0.0180 | 6 | c.67+ others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119562253 | C | CAAAAAA | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp2 HG03225.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0144a0001c0001t0001g0178a0001c0001t0001g0215others(5): Show | 8 | 226 | 0.0354 | 6 | c.527 others(21): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GGTGTGT | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp1 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(5): Show | a0001c0001t0001g0136a0001c0001t0001g0140a0001c0001t0001g0141others(18): Show | 21 | 226 | 0.0929 | 6 | c.165 others(23): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928672 | A | ATATACG | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02523.hp1 others(1): Show |
a0003a0007 | a0003c0012a0007c0007 | a0003c0012t0001a0007c0007t0001 | a0003c0012t0001g0083a0003c0012t0001g0084a0003c0012t0001g0272others(1): Show | 4 | 354 | 0.0113 | 6 | c.748 others(23): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121954636 | T | TAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(38): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0002others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0002t0001others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0118a0001c0001t0001g0127others(38): Show | 41 | 354 | 0.1158 | 6 | c.153 others(23): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121962708 | A | AAAAAGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(57): Show |
a0003a0004a0007others(2): Show | a0003c0003a0004c0002a0007c0007others(2): Show | a0003c0003t0001a0004c0002t0001a0007c0007t0001others(2): Show | a0003c0003t0001g0057a0003c0003t0001g0087a0003c0003t0001g0088others(57): Show | 60 | 354 | 0.1695 | 6 | c.249 others(23): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121964145 | T | TTTGTTG | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02280.hp2 others(8): Show |
a0003a0006 | a0003c0003a0003c0017a0006c0006 | a0003c0003t0001a0003c0017t0001a0006c0006t0001 | a0003c0003t0001g0348a0003c0003t0001g0349a0003c0003t0001g0350others(8): Show | 11 | 354 | 0.0311 | 6 | c.249 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAA | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01884.hp1 others(14): Show |
a0002a0004a0005others(2): Show | a0002c0004a0004c0002a0005c0005others(2): Show | a0002c0004t0001a0004c0002t0001a0005c0005t0001others(2): Show | a0002c0004t0001g0292a0002c0004t0001g0293a0002c0004t0001g0294others(14): Show | 17 | 354 | 0.0480 | 6 | c.300 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109107725 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01099.hp1 others(37): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0007others(1): Show | a0001c0001t0001a0004c0004t0001a0006c0007t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0017others(12): Show | 40 | 404 | 0.0990 | 6 | c.198 others(21): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGGGAGT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01517.hp1 HG01934.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(3): Show | 12 | 404 | 0.0297 | 6 | c.-77 others(15): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390867 | G | GTATATA | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0005 | a0001c0004t0001a0002c0002t0001a0002c0005t0001 | a0001c0004t0001g0065a0001c0004t0001g0066a0002c0002t0001g0067others(4): Show | 7 | 96 | 0.0729 | 6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80450888 | C | CGTGTGT | intron_variant | MODIFIER | HG00423.hp2 HG02735.hp2 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0006 | a0001c0003t0002a0001c0004t0001a0002c0006t0001 | a0001c0003t0002g0092a0001c0004t0001g0094a0001c0004t0001g0095others(1): Show | 4 | 96 | 0.0417 | 6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80453841 | A | AAATAAT | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01168.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0039others(9): Show | 12 | 96 | 0.1250 | 6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80476952 | T | TGCGCGC | intron_variant | MODIFIER | HG01168.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0023 | 2 | 96 | 0.0208 | 6 | c.243 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80476952 | T | TGTGCGC | intron_variant | MODIFIER | HG00423.hp2 HG02735.hp2 HG03139.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0092a0001c0004t0001g0094a0001c0004t0001g0095 | 3 | 96 | 0.0313 | 6 | c.243 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80504462 | C | CATATAT | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01168.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0048others(14): Show | 17 | 96 | 0.1771 | 6 | c.243 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80512221 | A | AGTGTGT | intron_variant | MODIFIER | HG00597.hp2 HG01168.hp2 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(5): Show | 8 | 96 | 0.0833 | 6 | c.243 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80562657 | C | CAATAAT | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01243.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0032others(10): Show | 13 | 96 | 0.1354 | 6 | c.243 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80608861 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG02735.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0094a0001c0004t0001g0095 | 2 | 96 | 0.0208 | 6 | c.333 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80651704 | T | TTGTGTG | intron_variant | MODIFIER | HG00738.hp1 HG02451.hp2 HG03041.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0025others(3): Show | 6 | 96 | 0.0625 | 6 | c.333 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80690133 | A | ACAAGAC | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0029others(7): Show | 10 | 96 | 0.1042 | 6 | c.333 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80730228 | T | TTCTCTC | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0048a0001c0003t0001g0035a0002c0002t0001g0020others(1): Show | 4 | 96 | 0.0417 | 6 | c.334 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80732070 | G | GACACAC | intron_variant | MODIFIER | HG03017.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0096a0002c0002t0001g0001 | 2 | 96 | 0.0208 | 6 | c.334 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |